Sarah P. Young (Pediatrics Medical Genetics, Duke University Medical Center, North Carolina) is the assistant director of the Duke Biochemical Genetics Laboratory. The main focus of her research is the development and application of biomarker assays for inherited metabolic diseases, including Pompe disease and other lysosomal storage disorders.
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques†
Article first published online: 17 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Advancements in Pompe Disease
Volume 160C, Issue 1, pages 50–58, 15 February 2012
How to Cite
Young, S. P., Piraud, M., Goldstein, J. L., Zhang, H., Rehder, C., Laforet, P., Kishnani, P. S., Millington, D. S., Bashir, M. R. and Bali, D. S. (2012), Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am. J. Med. Genet., 160C: 50–58. doi: 10.1002/ajmg.c.31320
How to cite this article: Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir M, Bali D. 2012. Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet Part C Semin Med Genet 160C:50–58.
- Issue published online: 23 JAN 2012
- Article first published online: 17 JAN 2012
- Pompe disease;
- glucose tetrasaccharide;
- whole body MRI
Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of the disease on affected systems. The aims of this manuscript were to review a noninvasive urinary glucose tetrasaccharide biomarker of glycogen storage, and to discuss advances in imaging techniques for determining the disease burden in Pompe disease. The glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a glycogen-derived limit dextrin that correlates with the extent of glycogen accumulation in skeletal muscle. As such, it is more useful than traditional biomarkers of tissue damage, such as CK and AST, for monitoring the response to enzyme replacement therapy in patients with Pompe disease. Glc4 is also useful as an adjunctive diagnostic test for Pompe disease when performed in conjunction with acid alpha-glucosidase activity measurements. Review of clinical records of 208 patients evaluated for Pompe disease by this approach showed Glc4 had 94% sensitivity and 84% specificity for Pompe disease. We propose Glc4 is useful as an overall measure of disease burden, but does not provide information on the location and distribution of excess glycogen accumulation. In this manuscript we also review magnetic resonance spectroscopy and imaging techniques as alternative, noninvasive tools for quantifying glycogen and detailing changes, such as fibrofatty muscle degeneration, in specific muscle groups in Pompe disease. These techniques show promise as a means of monitoring disease progression and the response to treatment in Pompe disease. © 2012 Wiley Periodicals, Inc.